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Q13216

- ERCC8_HUMAN

UniProt

Q13216 - ERCC8_HUMAN

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Protein
DNA excision repair protein ERCC-8
Gene
ERCC8, CKN1, CSA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes.3 Publications

Pathwayi

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. protein complex binding Source: UniProtKB

GO - Biological processi

  1. DNA repair Source: Reactome
  2. cellular response to DNA damage stimulus Source: UniProtKB
  3. nucleotide-excision repair Source: UniProtKB
  4. positive regulation of DNA repair Source: UniProtKB
  5. proteasome-mediated ubiquitin-dependent protein catabolic process Source: UniProtKB
  6. protein autoubiquitination Source: UniProtKB
  7. protein polyubiquitination Source: UniProtKB
  8. response to UV Source: UniProtKB
  9. response to X-ray Source: Ensembl
  10. response to oxidative stress Source: UniProtKB
  11. transcription-coupled nucleotide-excision repair Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair, Ubl conjugation pathway

Enzyme and pathway databases

ReactomeiREACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
REACT_2222. Dual incision reaction in TC-NER.
SignaLinkiQ13216.
UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
DNA excision repair protein ERCC-8
Alternative name(s):
Cockayne syndrome WD repeat protein CSA
Gene namesi
Name:ERCC8
Synonyms:CKN1, CSA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:3439. ERCC8.

Subcellular locationi

Nucleus Inferred

GO - Cellular componenti

  1. Cul4A-RING E3 ubiquitin ligase complex Source: UniProtKB
  2. nuclear matrix Source: MGI
  3. nucleoplasm Source: Reactome
  4. nucleotide-excision repair complex Source: MGI
  5. nucleus Source: MGI
  6. protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Cockayne syndrome A (CSA) [MIM:216400]: A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti160 – 1601A → T in CSA. 1 Publication
Corresponds to variant rs281875222 [ dbSNP | Ensembl ].
VAR_063507
Natural varianti160 – 1601A → V in CSA. 1 Publication
Corresponds to variant rs121434325 [ dbSNP | Ensembl ].
VAR_025380
Natural varianti194 – 1941W → C in CSA. 1 Publication
Corresponds to variant rs281875223 [ dbSNP | Ensembl ].
VAR_063508
Natural varianti202 – 2021L → S in CSA. 1 Publication
Corresponds to variant rs281875224 [ dbSNP | Ensembl ].
VAR_063509
Natural varianti205 – 2051A → P in CSA. 1 Publication
Corresponds to variant rs121434326 [ dbSNP | Ensembl ].
VAR_025381
Natural varianti266 – 2661D → G in CSA. 1 Publication
Corresponds to variant rs281875225 [ dbSNP | Ensembl ].
VAR_063510
UV-sensitive syndrome 2 (UVSS2) [MIM:614621]: An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti361 – 3611W → C in UVSS2. 1 Publication
Corresponds to variant rs281875221 [ dbSNP | Ensembl ].
VAR_068177

Keywords - Diseasei

Cockayne syndrome, Deafness, Disease mutation, Dwarfism

Organism-specific databases

MIMi216400. phenotype.
614621. phenotype.
Orphaneti90321. Cockayne syndrome type 1.
90322. Cockayne syndrome type 2.
90324. Cockayne syndrome type 3.
178338. UV-sensitive syndrome.
PharmGKBiPA27853.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 396396DNA excision repair protein ERCC-8
PRO_0000050970Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei390 – 3901Phosphoserine1 Publication
Modified residuei391 – 3911Phosphoserine1 Publication
Modified residuei392 – 3921Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ13216.
PaxDbiQ13216.
PRIDEiQ13216.

PTM databases

PhosphoSiteiQ13216.

Expressioni

Gene expression databases

ArrayExpressiQ13216.
BgeeiQ13216.
CleanExiHS_ERCC8.
GenevestigatoriQ13216.

Interactioni

Subunit structurei

Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing ERCC8, RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Interacts with ERCC6 and KIAA1530/UVSSA. Interacts with a subunit of RNA polymerase II TFIIH. Interacts with DDB1.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ERCC6Q034682EBI-596556,EBI-295284
XAB2Q9HCS73EBI-295260,EBI-295232

Protein-protein interaction databases

BioGridi107581. 35 interactions.
DIPiDIP-291N.
IntActiQ13216. 9 interactions.
MINTiMINT-1417899.
STRINGi9606.ENSP00000265038.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi2 – 109
Helixi15 – 2814
Beta strandi30 – 323
Beta strandi36 – 383
Beta strandi46 – 516
Turni53 – 553
Beta strandi58 – 636
Beta strandi68 – 725
Beta strandi77 – 804
Beta strandi82 – 843
Beta strandi86 – 905
Beta strandi102 – 1076
Beta strandi115 – 1195
Beta strandi122 – 1287
Turni129 – 1324
Beta strandi133 – 1397
Beta strandi144 – 1496
Beta strandi158 – 17619
Beta strandi180 – 1823
Beta strandi189 – 1946
Beta strandi201 – 2066
Beta strandi211 – 2155
Beta strandi223 – 2253
Turni228 – 2314
Turni237 – 2393
Beta strandi248 – 2536
Beta strandi257 – 2648
Beta strandi269 – 2735
Turni274 – 2763
Beta strandi302 – 3054
Beta strandi307 – 3126
Beta strandi315 – 3206
Turni321 – 3233
Beta strandi326 – 3305
Beta strandi337 – 3437
Turni344 – 3474
Beta strandi348 – 3536
Beta strandi358 – 3636

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4A11X-ray3.31B1-396[»]
ProteinModelPortaliQ13216.
SMRiQ13216. Positions 1-365.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati41 – 7232WD 1
Add
BLAST
Repeati97 – 12832WD 2
Add
BLAST
Repeati184 – 21532WD 3
Add
BLAST
Repeati243 – 27331WD 4
Add
BLAST
Repeati332 – 36231WD 5
Add
BLAST

Sequence similaritiesi

Contains 5 WD repeats.

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiCOG2319.
HOGENOMiHOG000248233.
HOVERGENiHBG005409.
InParanoidiQ13216.
KOiK10570.
OMAiQELYSGG.
PhylomeDBiQ13216.
TreeFamiTF101237.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 5 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 5 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q13216-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MLGFLSARQT GLEDPLRLRR AESTRRVLGL ELNKDRDVER IHGGGINTLD    50
IEPVEGRYML SGGSDGVIVL YDLENSSRQS YYTCKAVCSI GRDHPDVHRY 100
SVETVQWYPH DTGMFTSSSF DKTLKVWDTN TLQTADVFNF EETVYSHHMS 150
PVSTKHCLVA VGTRGPKVQL CDLKSGSCSH ILQGHRQEIL AVSWSPRYDY 200
ILATASADSR VKLWDVRRAS GCLITLDQHN GKKSQAVESA NTAHNGKVNG 250
LCFTSDGLHL LTVGTDNRMR LWNSSNGENT LVNYGKVCNN SKKGLKFTVS 300
CGCSSEFVFV PYGSTIAVYT VYSGEQITML KGHYKTVDCC VFQSNFQELY 350
SGSRDCNILA WVPSLYEPVP DDDETTTKSQ LNPAFEDAWS SSDEEG 396
Length:396
Mass (Da):44,055
Last modified:November 1, 1996 - v1
Checksum:iEC962D56226D717B
GO
Isoform 2 (identifier: Q13216-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     185-205: HRQEILAVSWSPRYDYILATA → IFILFQTATTLSKRFNKKKRY
     206-396: Missing.

Note: No experimental confirmation available.

Show »
Length:205
Mass (Da):23,182
Checksum:i6553CE607A392576
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501S → C.
Corresponds to variant rs167037 [ dbSNP | Ensembl ].
VAR_053392
Natural varianti160 – 1601A → T in CSA. 1 Publication
Corresponds to variant rs281875222 [ dbSNP | Ensembl ].
VAR_063507
Natural varianti160 – 1601A → V in CSA. 1 Publication
Corresponds to variant rs121434325 [ dbSNP | Ensembl ].
VAR_025380
Natural varianti194 – 1941W → C in CSA. 1 Publication
Corresponds to variant rs281875223 [ dbSNP | Ensembl ].
VAR_063508
Natural varianti200 – 2001Y → C.1 Publication
Corresponds to variant rs4647105 [ dbSNP | Ensembl ].
VAR_016319
Natural varianti202 – 2021L → S in CSA. 1 Publication
Corresponds to variant rs281875224 [ dbSNP | Ensembl ].
VAR_063509
Natural varianti205 – 2051A → P in CSA. 1 Publication
Corresponds to variant rs121434326 [ dbSNP | Ensembl ].
VAR_025381
Natural varianti266 – 2661D → G in CSA. 1 Publication
Corresponds to variant rs281875225 [ dbSNP | Ensembl ].
VAR_063510
Natural varianti361 – 3611W → C in UVSS2. 1 Publication
Corresponds to variant rs281875221 [ dbSNP | Ensembl ].
VAR_068177

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei185 – 20521HRQEI…ILATA → IFILFQTATTLSKRFNKKKR Y in isoform 2.
VSP_013914Add
BLAST
Alternative sequencei206 – 396191Missing in isoform 2.
VSP_013915Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U28413 mRNA. Translation: AAA82605.1.
CR536563 mRNA. Translation: CAG38800.1.
BT020021 mRNA. Translation: AAV38824.1.
AY213194 Genomic DNA. Translation: AAO21128.1.
AK314511 mRNA. Translation: BAG37111.1.
CH471123 Genomic DNA. Translation: EAW55004.1.
BC009793 mRNA. Translation: AAH09793.1.
CCDSiCCDS3978.1. [Q13216-1]
PIRiA57090.
RefSeqiNP_000073.1. NM_000082.3. [Q13216-1]
NP_001007235.1. NM_001007234.2. [Q13216-2]
UniGeneiHs.435237.

Genome annotation databases

EnsembliENST00000265038; ENSP00000265038; ENSG00000049167. [Q13216-1]
GeneIDi1161.
KEGGihsa:1161.
UCSCiuc003jsl.3. human. [Q13216-1]
uc003jsn.3. human. [Q13216-2]

Polymorphism databases

DMDMi3121917.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Allelic variations of the XP genes
Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs
Mendelian genes excision repair cross-complementing rodent repair deficiency, complementation group 8 (ERCC8)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U28413 mRNA. Translation: AAA82605.1 .
CR536563 mRNA. Translation: CAG38800.1 .
BT020021 mRNA. Translation: AAV38824.1 .
AY213194 Genomic DNA. Translation: AAO21128.1 .
AK314511 mRNA. Translation: BAG37111.1 .
CH471123 Genomic DNA. Translation: EAW55004.1 .
BC009793 mRNA. Translation: AAH09793.1 .
CCDSi CCDS3978.1. [Q13216-1 ]
PIRi A57090.
RefSeqi NP_000073.1. NM_000082.3. [Q13216-1 ]
NP_001007235.1. NM_001007234.2. [Q13216-2 ]
UniGenei Hs.435237.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4A11 X-ray 3.31 B 1-396 [» ]
ProteinModelPortali Q13216.
SMRi Q13216. Positions 1-365.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107581. 35 interactions.
DIPi DIP-291N.
IntActi Q13216. 9 interactions.
MINTi MINT-1417899.
STRINGi 9606.ENSP00000265038.

PTM databases

PhosphoSitei Q13216.

Polymorphism databases

DMDMi 3121917.

Proteomic databases

MaxQBi Q13216.
PaxDbi Q13216.
PRIDEi Q13216.

Protocols and materials databases

DNASUi 1161.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265038 ; ENSP00000265038 ; ENSG00000049167 . [Q13216-1 ]
GeneIDi 1161.
KEGGi hsa:1161.
UCSCi uc003jsl.3. human. [Q13216-1 ]
uc003jsn.3. human. [Q13216-2 ]

Organism-specific databases

CTDi 1161.
GeneCardsi GC05M060169.
GeneReviewsi ERCC8.
H-InvDB HIX0004887.
HGNCi HGNC:3439. ERCC8.
MIMi 216400. phenotype.
609412. gene.
614621. phenotype.
neXtProti NX_Q13216.
Orphaneti 90321. Cockayne syndrome type 1.
90322. Cockayne syndrome type 2.
90324. Cockayne syndrome type 3.
178338. UV-sensitive syndrome.
PharmGKBi PA27853.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2319.
HOGENOMi HOG000248233.
HOVERGENi HBG005409.
InParanoidi Q13216.
KOi K10570.
OMAi QELYSGG.
PhylomeDBi Q13216.
TreeFami TF101237.

Enzyme and pathway databases

UniPathwayi UPA00143 .
Reactomei REACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
REACT_2222. Dual incision reaction in TC-NER.
SignaLinki Q13216.

Miscellaneous databases

GeneWikii ERCC8_(gene).
GenomeRNAii 1161.
NextBioi 4822.
PROi Q13216.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q13216.
Bgeei Q13216.
CleanExi HS_ERCC8.
Genevestigatori Q13216.

Family and domain databases

Gene3Di 2.130.10.10. 1 hit.
InterProi IPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF00400. WD40. 5 hits.
[Graphical view ]
PRINTSi PR00320. GPROTEINBRPT.
SMARTi SM00320. WD40. 5 hits.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 1 hit.
PROSITEi PS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 5 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH."
    Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R., Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., Friedberg E.C.
    Cell 82:555-564(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. NIEHS SNPs program
    Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT CYS-200.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Uterus.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Urinary bladder.
  8. "The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage."
    Groisman R., Polanowska J., Kuraoka I., Sawada J., Saijo M., Drapkin R., Kisselev A.F., Tanaka K., Nakatani Y.
    Cell 113:357-367(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DDB1, IDENTIFICATION IN THE CSA COMPLEX WITH RBX1; DDB1 AND CUL4A, INTERACTION OF THE CSA COMPLEX WITH RNA POLYMERASE II AND THE COP9 SIGNALOSOME.
  9. "CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome."
    Groisman R., Kuraoka I., Chevallier O., Gaye N., Magnaldo T., Tanaka K., Kisselev A.F., Harel-Bellan A., Nakatani Y.
    Genes Dev. 20:1429-1434(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ERCC6, FUNCTION AS SUBSTRATE-RECOGNITION COMPONENT OF THE CSA COMPLEX.
  10. "Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo."
    Fousteri M., Vermeulen W., van Zeeland A.A., Mullenders L.H.
    Mol. Cell 23:471-482(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  11. "Molecular architecture and assembly of the DDB1-CUL4A ubiquitin ligase machinery."
    Angers S., Li T., Yi X., MacCoss M.J., Moon R.T., Zheng N.
    Nature 443:590-593(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-390; SER-391 AND SER-392, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair."
    Zhang X., Horibata K., Saijo M., Ishigami C., Ukai A., Kanno S.I., Tahara H., Neilan E.G., Honma M., Nohmi T., Yasui A., Tanaka K.
    Nat. Genet. 44:593-597(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH UVSSA.
  14. "CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism."
    Cao H., Williams C., Carter M., Hegele R.A.
    J. Hum. Genet. 49:61-63(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CSA PRO-205.
  15. "Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects."
    Ridley A.J., Colley J., Wynford-Thomas D., Jones C.J.
    J. Hum. Genet. 50:151-154(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CSA VAL-160.
  16. "A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage."
    Nardo T., Oneda R., Spivak G., Vaz B., Mortier L., Thomas P., Orioli D., Laugel V., Stary A., Hanawalt P.C., Sarasin A., Stefanini M.
    Proc. Natl. Acad. Sci. U.S.A. 106:6209-6214(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT UVSS2 CYS-361.
  17. Cited for: VARIANTS CSA THR-160; CYS-194; SER-202 AND GLY-266.

Entry informationi

Entry nameiERCC8_HUMAN
AccessioniPrimary (citable) accession number: Q13216
Secondary accession number(s): B2RB64, Q6FHX5, Q96GB9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: September 3, 2014
This is version 143 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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